Canonical Allele Identifier: CA6580874

Gene: KRT6B

Linked Data

• dbSNP Id: rs758676534
• ExAC: 12:52845472 G / A
• gnomAD v2: 12-52845472-G-A
• gnomAD v4: 12-52451688-G-A
• MyVariant Identifiers: chr12:g.52845472G>A (hg19) ; chr12:g.52451688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451688G>A , CM000674.2:g.52451688G>A	GRCh38
NC_000012.11:g.52845472G>A , CM000674.1:g.52845472G>A	GRCh37
NC_000012.10:g.51131739G>A	NCBI36
NG_008299.1:g.5439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.391C>T MANE Select	ENSP00000252252.3:p.Pro131Ser
ENST00000252252.3:c.391C>T	ENSP00000252252.3:p.Pro131Ser
NM_005555.3:c.391C>T	NP_005546.2:p.Pro131Ser
NM_005555.4:c.391C>T MANE Select	NP_005546.2:p.Pro131Ser